Inherited Retinal Disorders


There are many inherited retinal disorders. Some are severe and may cause blindness, whereas others may remain asymptomatic though an entire patient’s life. They run in families (familial or inherited) and may be autosomal dominant (strong inheritance that does not skip any generations) or autosomal recessive (less strong inheritance that may skip many generations). They may present at a young age (e.g .Juvenile X-Linked retinoschisis) while others may be diagnosed later in life (e.g. Dominant Macular Pattern Dystrophies). A good patient history, family history, retinal exam, and diagnostic testing (angiography, electroretinography, genetic testing) are required to confirm a diagnosis. Some inherited retinal disorders may be treated, but not necessarily cured. Examples include cystoid macular edema which may occur in Retinitis Pigmentosa and choroidal neovascular membrane formation which may occur in a macular dystrophy.

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